De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications

Beckwith–Wiedemann spectrum (BWSp) is a genomic imprinting disorder characterized by a wide range of clinical features. Here we report an infant with BWSp and atypical features, for whom long-read sequencing confirmed a de novo CDKN1C variant that occurred on the maternally inherited allele and excl...

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Published inHuman genome variation Vol. 12; no. 1; pp. 9 - 3
Main Authors Moriura, Yuri, Nishio, Yosuke, Ichimura, Shintaro, Noda, Haruka, Tanahashi, Yoshihiro, Yamamoto, Hikaru, Nakazawa, Yuka, Oso, Taichi, Sato, Yoshiaki, Takenouchi, Toshiki, Saitoh, Shinji, Muramatsu, Yukako, Ogi, Tomoo
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 28.05.2025
Springer Nature B.V
Nature Publishing Group
Subjects
631/208/176/1968
631/208/176/1988
631/61/514/2254
Biomedical and Life Sciences
Biomedicine
Data Report
DNA methylation
Gallbladder diseases
Gene Expression
Gene Function
Gene Therapy
Genetics
Genomes
Genomic imprinting
Haplotypes
Human Genetics
Hypoglycemia
Medicine
Molecular Medicine
Mutation
Neonatal care
Pediatrics
University graduates
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Summary:Beckwith–Wiedemann spectrum (BWSp) is a genomic imprinting disorder characterized by a wide range of clinical features. Here we report an infant with BWSp and atypical features, for whom long-read sequencing confirmed a de novo CDKN1C variant that occurred on the maternally inherited allele and excluded other genetic etiologies. These findings not only expand the BWSp concept but also highlight the potential value of allelic origin analysis in cases with atypical presentations.
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ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-025-00316-0